Product Details

SNP ID
rs78676083
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116277107 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCCCAATTGAAATCAAAAGAAT[A/G]TCTGTACAGCTCAATTTTCACAATA
Phenotype
MIM: 605942 MIM: 604714
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DSE PubMed Links

Gene Details

Gene
DSE
Gene Name
dermatan sulfate epimerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080976.2 3011 Intron NP_001074445.1
NM_001322937.1 3011 Intron NP_001309866.1
NM_001322938.1 3011 Intron NP_001309867.1
NM_001322939.1 3011 Intron NP_001309868.1
NM_001322940.1 3011 Intron NP_001309869.1
NM_001322941.1 3011 Intron NP_001309870.1
NM_001322943.1 3011 Intron NP_001309872.1
NM_001322944.1 3011 Intron NP_001309873.1
NM_013352.3 3011 Intron NP_037484.1
XM_017010795.1 3011 Intron XP_016866284.1
XM_017010796.1 3011 Intron XP_016866285.1
XM_017010797.1 3011 Intron XP_016866286.1
Gene
TSPYL1
Gene Name
TSPY like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003309.3 3011 UTR 3 NP_003300.1

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